A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677067



Internal ID9943172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44468296..44468969hg38UCSC Ensembl
chr13:45042432..45043105hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6063297, essv5844883, essv6496809, essv5524948, essv5903451, essv5861512, essv6322485, essv5461873, essv5704863, essv5841492, essv6163080, essv5762280, essv5700403, essv5607625, essv6247080, essv6070256, essv5738174, essv6367107, essv5700659, essv6200245, essv5705090, essv6450186, essv5668829, essv6559580, essv5673200, essv5480336, essv5612635, essv5526533, essv5832625, essv6381635, essv6596603, essv6245232, essv6494461, essv6216528, essv6526578, essv6519098, essv5872180, essv5664585, essv5881780, essv5735600, essv5497843, essv6185764, essv5523655, essv6563098, essv6336498, essv5867554, essv5679231, essv6135897, essv6259276, essv5550707, essv5713285, essv6582465, essv6191136, essv6106713, essv5468850, essv5961882, essv5453801, essv6309252, essv6037621, essv5606969, essv6473230, essv5422103, essv6194207, essv6235518, essv6060753, essv5927965, essv6505613, essv5830770, essv6361402, essv6436743, essv5704031, essv6295110, essv5760493, essv5752543, essv5937704, essv5670703, essv6231904, essv6493942, essv6025914, essv6513280, essv6442395, essv5786384, essv6292653, essv6186166, essv5890111, essv6164391, essv6519744
SamplesNA20529, NA12842, HG00143, HG01462, NA12286, NA20508, NA12273, NA19914, HG00100, NA11920, HG01188, HG00315, NA20816, NA20813, NA20512, HG00367, NA20507, NA12413, HG00138, NA18940, HG00173, NA20795, NA12891, NA20769, NA12348, HG01492, NA07347, NA12283, NA20768, NA12287, HG00270, HG00185, HG00243, HG00281, NA20278, HG00236, HG00232, NA12889, NA19722, HG00160, HG00338, HG00159, NA19209, HG00323, NA20755, HG00137, NA12777, HG01136, NA12489, HG00731, HG00282, NA19670, HG00145, NA12878, NA20809, HG01095, HG00320, HG00344, NA18907, HG00273, HG00117, HG01497, HG00152, NA19225, NA12144, NA20534, HG01204, NA19436, NA18576, HG00258, HG00119, HG00285, HG00353, NA20815, NA12272, NA20527, NA20778, NA20544, HG01108, NA07037, HG00329, NA12749, HG00310, HG00131, HG00377, HG00274, NA20772
Known GenesTSC22D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677067
Frequency
Sample Size1151
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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