A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609067



Internal ID6995990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55476843..55480864hg38UCSC Ensembl
Innerchr6:55476844..55480864hg38UCSC Ensembl
Outerchr6:55476843..55480865hg38UCSC Ensembl
chr6:55341641..55345662hg19UCSC Ensembl
Innerchr6:55341642..55345662hg19UCSC Ensembl
Outerchr6:55341641..55345663hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384022
hg194022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12363270, essv12363245, essv12363242, essv12363295, essv12363248, essv12363236, essv12363254, essv12363298, essv12363279, essv12363272, essv12363297, essv12363283, essv12363285, essv12363250, essv12363246, essv12363289, essv12363286, essv12363271, essv12363275, essv12363241, essv12363243, essv12363253, essv12363284, essv12363238, essv12363237, essv12363287, essv12363266, essv12363257, essv12363249, essv12363291, essv12363259, essv12363261, essv12363278, essv12363244, essv12363269, essv12363282, essv12363265, essv12363292, essv12363293, essv12363252, essv12363281, essv12363290, essv12363239, essv12363258, essv12363274, essv12363299, essv12363240, essv12363294, essv12363276, essv12363296, essv12363268, essv12363251, essv12363256, essv12363277, essv12363264, essv12363288, essv12363260, essv12363247, essv12363255, essv12363263, essv12363267, essv12363262, essv12363280, essv12363273
SamplesHG01985, HG03121, HG02481, HG01885, HG02702, HG02337, HG02323, HG03455, HG03190, HG03100, NA18504, HG02888, NA18870, HG03464, NA19171, HG03436, NA19319, HG03452, HG03485, HG02054, HG02981, HG02281, NA19372, NA19317, NA19026, NA19189, HG02545, NA18864, NA20355, HG03073, HG02820, NA19908, NA19347, HG02554, HG03457, HG02887, NA18910, HG02968, HG02878, HG01092, HG03311, HG02429, HG02585, NA19318, HG02484, HG02255, HG02455, HG03240, NA19473, HG01894, NA19835, HG03433, HG02941, NA19428, NA19360, HG03103, NA20348, HG03025, HG03279, HG02107, HG03258, NA20289, HG03410, HG03072
Known GenesHMGCLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609067
Frequency
Sample Size2504
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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