A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673506



Internal ID9592925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2136886..2140492hg38UCSC Ensembl
Outerchr11:2136515..2140862hg38UCSC Ensembl
Innerchr11:2158116..2161722hg19UCSC Ensembl
Outerchr11:2157745..2162092hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6425010, essv6044038, essv5912467, essv5820836, essv5497263, essv5919090, essv6123110, essv6392956, essv6237050, essv6487656, essv5649399, essv6212220, essv6152363, essv6301374, essv5748371, essv5730110, essv5862771, essv5675176, essv6003000, essv5684231, essv5726415, essv5948849, essv6533760, essv5970931, essv6201064, essv5582616, essv6184740, essv6011751, essv6585485, essv5403615, essv5396532
SamplesNA19625, NA19712, NA19904, NA20278, NA19819, NA19920, NA19834, NA19701, NA20322, NA19982, NA20356, NA19917, NA19900, NA19985, NA19835, NA20282, NA20336, NA19700, NA19703, NA20344, NA19713, NA19901, NA19704, NA19909, NA19707, NA19711, NA19921, NA20276, NA20289, NA19818, NA19916
Known GenesIGF2, IGF2-AS, INS-IGF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673506
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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