A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613626



Internal ID6653835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71270212..71271700hg38UCSC Ensembl
Innerchr7:71270232..71271680hg38UCSC Ensembl
Outerchr7:71270192..71271720hg38UCSC Ensembl
chr7:70735198..70736686hg19UCSC Ensembl
Innerchr7:70735218..70736666hg19UCSC Ensembl
Outerchr7:70735178..70736706hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381489
hg191489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12829570, essv12829571, essv12829572
SamplesHG02166, HG02385, HG02128
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613626
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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