A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12948190



Internal ID979898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121521702..121540037hg38UCSC Ensembl
Innerchr7:121521752..121539987hg38UCSC Ensembl
Outerchr7:121521538..121540201hg38UCSC Ensembl
chr7:121161756..121180091hg19UCSC Ensembl
Innerchr7:121161806..121180041hg19UCSC Ensembl
Outerchr7:121161592..121180255hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3818336
hg1918336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614823
Supporting Variants
SamplesHG00608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12948190
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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