A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12829384



Internal ID2831200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71154728..71159926hg38UCSC Ensembl
Innerchr7:71154728..71159926hg38UCSC Ensembl
Outerchr7:71154386..71160221hg38UCSC Ensembl
chr7:70619714..70624912hg19UCSC Ensembl
Innerchr7:70619714..70624912hg19UCSC Ensembl
Outerchr7:70619372..70625207hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg385199
hg195199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613620
Supporting Variants
SamplesHG03048
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12829384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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