A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10815390



Internal ID1764273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196403858..196408816hg38UCSC Ensembl
Innerchr2:196404008..196408666hg38UCSC Ensembl
Outerchr2:196403708..196408966hg38UCSC Ensembl
chr2:197268582..197273540hg19UCSC Ensembl
Innerchr2:197268732..197273390hg19UCSC Ensembl
Outerchr2:197268432..197273690hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg384959
hg194959
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593887
Supporting Variants
SamplesHG01624
Known GenesHECW2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10815390
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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