A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10496211



Internal ID3263314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49064501..49066230hg38UCSC Ensembl
Innerchr2:49064531..49066201hg38UCSC Ensembl
Outerchr2:49064472..49066260hg38UCSC Ensembl
chr2:49291640..49293369hg19UCSC Ensembl
Innerchr2:49291670..49293340hg19UCSC Ensembl
Outerchr2:49291611..49293399hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381730
hg191730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590675
Supporting Variants
SamplesHG02882
Known GenesFSHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10496211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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