A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671970



Internal ID9591389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54051832..54059132hg38UCSC Ensembl
chr19:54555086..54562386hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387301
hg197301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv663e199
Supporting Variantsessv6225073, essv6386221, essv6022820, essv6029921, essv6268860, essv5544999, essv6021174, essv5907951, essv6269703, essv5553026, essv6281218, essv5944772, essv6283590, essv5999392, essv6185010, essv6161676, essv5607833, essv5631080, essv5421782, essv5677198, essv6377712, essv6363395, essv6579149, essv6125488, essv6444986, essv6585097, essv6472477, essv6026375, essv6111624, essv5964049, essv5652899, essv5518260, essv6580851, essv6252745, essv6363675, essv5537303, essv5850331, essv5911953, essv6396075, essv5678755, essv6446042, essv5906190, essv6179264, essv5497121, essv5507428, essv6430576, essv6132947, essv5586243, essv5539705, essv6353505, essv6420254, essv5415376, essv5953810, essv6313641, essv5946645, essv5558771, essv5532680, essv5646377, essv6285725, essv5769675, essv6292621, essv5494119, essv6318490, essv6464478, essv5436847, essv6094801, essv5873791, essv5933904, essv5904760, essv6135703, essv5726313, essv5444235, essv6538993, essv5749875, essv6344578, essv5422163, essv5762103, essv6315060, essv6530099, essv6546509, essv6095349, essv5724205, essv6584056, essv6184506, essv5697237, essv5554837, essv6166918, essv6371939, essv6323086, essv5418222, essv5808073, essv5455193, essv5624095, essv6335098, essv6308820, essv5904277, essv5703198, essv5523534, essv5428749, essv6089952, essv6517440, essv5827584, essv5766339, essv5977971, essv5811596, essv5853223, essv5420609, essv5799831, essv6299807
SamplesHG00096, HG01060, HG01356, NA19703, NA19397, HG01462, NA19332, NA19704, HG01188, HG01389, HG00151, HG00640, NA19359, HG01465, NA19355, NA19393, HG00737, HG01051, HG01140, NA19374, HG00641, NA19396, NA19373, HG01350, HG01366, HG00251, NA19448, HG01167, NA19916, HG01492, NA19313, HG01365, NA19904, NA19384, NA20291, HG00158, NA19404, HG00139, HG01080, NA19383, HG00148, HG00106, HG00236, HG00156, NA20340, HG01176, NA19901, HG00637, NA19456, NA20127, NA19921, HG01124, HG01353, HG01136, HG00731, HG01171, HG01384, NA19347, HG00732, HG01095, NA19982, HG01047, HG01073, NA19461, HG00250, NA19449, HG01383, NA19453, HG01101, HG00140, HG01334, NA19338, HG00141, NA19318, NA19625, NA19436, NA19375, HG00258, HG00155, NA19440, HG00254, HG00119, HG00265, NA19712, NA19434, HG01551, HG01253, NA19435, HG00638, NA19444, NA19331, NA19835, HG01113, HG01108, NA20281, HG01489, NA19376, NA19438, NA19468, HG00123, NA19711, HG01378, HG01082, NA19312, HG01112, HG01097, HG00554, NA19346, HG00553
Known GenesVSTM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671970
Frequency
Sample Size1151
Observed Gain0
Observed Loss109
Observed Complex0
Frequencyn/a


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