A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591184



Internal ID6631468
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10534366, essv10534365
SamplesHG00328, HG00360
Known GenesAAK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591184
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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