A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10406955



Internal ID408771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10560075..10564038hg38UCSC Ensembl
Innerchr2:10560102..10564012hg38UCSC Ensembl
Outerchr2:10560049..10564065hg38UCSC Ensembl
chr2:10700201..10704164hg19UCSC Ensembl
Innerchr2:10700228..10704138hg19UCSC Ensembl
Outerchr2:10700175..10704191hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383964
hg193964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589803
Supporting Variants
SamplesHG00632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10406955
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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