A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614344



Internal ID7001238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102057913..102062358hg38UCSC Ensembl
Innerchr7:102057922..102062350hg38UCSC Ensembl
Outerchr7:102057905..102062367hg38UCSC Ensembl
chr7:101701193..101705638hg19UCSC Ensembl
Innerchr7:101701202..101705630hg19UCSC Ensembl
Outerchr7:101701185..101705647hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384446
hg194446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12911139, essv12911137, essv12911138
SamplesNA19917, HG03653, HG03849
Known GenesCUX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614344
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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