A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10544513



Internal ID546329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75593863..75690050hg38UCSC Ensembl
Innerchr2:75594013..75689900hg38UCSC Ensembl
Outerchr2:75593713..75690200hg38UCSC Ensembl
chr2:75820989..75917176hg19UCSC Ensembl
Innerchr2:75821139..75917026hg19UCSC Ensembl
Outerchr2:75820839..75917326hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3896188
hg1996188
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591303
Supporting Variants
SamplesNA18555
Known GenesGCFC2, MRPL19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10544513
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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