A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593076



Internal ID6980400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158425913..158429219hg38UCSC Ensembl
Innerchr2:158425913..158429219hg38UCSC Ensembl
Outerchr2:158425413..158429719hg38UCSC Ensembl
chr2:159282425..159285731hg19UCSC Ensembl
Innerchr2:159282425..159285731hg19UCSC Ensembl
Outerchr2:159281925..159286231hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383307
hg193307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10726942, essv10726941, essv10726939, essv10726940
SamplesNA19355, NA19130, NA19137, HG02449
Known GenesCCDC148
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593076
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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