A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10534365



Internal ID536181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69485414..69497371hg38UCSC Ensembl
Innerchr2:69485564..69497221hg38UCSC Ensembl
Outerchr2:69485264..69497521hg38UCSC Ensembl
chr2:69712546..69724503hg19UCSC Ensembl
Innerchr2:69712696..69724353hg19UCSC Ensembl
Outerchr2:69712396..69724653hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3811958
hg1911958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591184
Supporting Variants
SamplesHG00328
Known GenesAAK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10534365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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