A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10697404



Internal ID6241862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144799509..144805720hg38UCSC Ensembl
Innerchr2:144799509..144805720hg38UCSC Ensembl
Outerchr2:144799009..144806220hg38UCSC Ensembl
chr2:145557076..145563287hg19UCSC Ensembl
Innerchr2:145557076..145563287hg19UCSC Ensembl
Outerchr2:145556576..145563787hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg386212
hg196212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592779
Supporting Variants
SamplesNA19770
Known GenesTEX41
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10697404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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