A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12819586



Internal ID1842232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66873206..66891838hg38UCSC Ensembl
Innerchr7:66873706..66891338hg38UCSC Ensembl
Outerchr7:66872206..66892838hg38UCSC Ensembl
chr7:66338193..66356825hg19UCSC Ensembl
Innerchr7:66338693..66356325hg19UCSC Ensembl
Outerchr7:66337193..66357825hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3818633
hg1918633
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613527
Supporting Variants
SamplesHG01708
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12819586
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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