A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671686



Internal ID9591105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65555591..65555835hg38UCSC Ensembl
chr4:66421309..66421553hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6068117, essv5956347, essv6058237, essv5495613, essv6252669, essv5689693, essv6011483, essv5603945, essv5541190, essv6071174, essv5681994, essv6396148, essv5809738, essv5740947, essv6345115, essv6153677, essv5507752, essv5488374, essv5515292, essv5716935, essv5645692, essv5543774, essv6360833, essv5835309, essv5734909, essv6426683, essv5459905, essv6351125, essv6241522, essv6129017, essv5554704
SamplesNA18520, NA18871, NA18523, NA19437, HG01173, NA19469, NA20346, HG01082, HG01488, NA18517, NA19920, NA19379, NA19834, NA18488, NA19147, NA19197, NA19900, NA19440, NA19372, NA20291, NA18498, NA18486, NA18522, NA19238, NA20344, NA19704, NA19707, NA18907, NA18499, NA19240, NA18853
Known GenesEPHA5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671686
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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