A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612031



Internal ID6998933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6468420..6469346hg38UCSC Ensembl
Innerchr7:6468445..6469321hg38UCSC Ensembl
Outerchr7:6468395..6469371hg38UCSC Ensembl
chr7:6508051..6508977hg19UCSC Ensembl
Innerchr7:6508076..6508952hg19UCSC Ensembl
Outerchr7:6508026..6509002hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38927
hg19927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12673149, essv12673148
SamplesHG02521, HG00656
Known GenesKDELR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612031
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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