A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10486656



Internal ID488472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45530898..45532889hg38UCSC Ensembl
Innerchr2:45530898..45532889hg38UCSC Ensembl
Outerchr2:45530603..45533154hg38UCSC Ensembl
chr2:45758037..45760028hg19UCSC Ensembl
Innerchr2:45758037..45760028hg19UCSC Ensembl
Outerchr2:45757742..45760293hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381992
hg191992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590589
Supporting Variants
SamplesNA12763
Known GenesSRBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10486656
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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