A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611797



Internal ID6652013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:989832..997859hg38UCSC Ensembl
Innerchr7:989832..997859hg38UCSC Ensembl
Outerchr7:989708..997962hg38UCSC Ensembl
chr7:1029468..1037495hg19UCSC Ensembl
Innerchr7:1029468..1037495hg19UCSC Ensembl
Outerchr7:1029344..1037598hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg388028
hg198028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12662081, essv12662083, essv12662082
SamplesHG03762, HG04080, HG03611
Known GenesC7orf50
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611797
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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