A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614750



Internal ID7001643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118950799..118958993hg38UCSC Ensembl
Innerchr7:118950799..118958993hg38UCSC Ensembl
Outerchr7:118950624..118959185hg38UCSC Ensembl
chr7:118590853..118599047hg19UCSC Ensembl
Innerchr7:118590853..118599047hg19UCSC Ensembl
Outerchr7:118590678..118599239hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg388195
hg198195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12942470, essv12942471, essv12942472
SamplesHG01051, HG02461, NA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614750
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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