A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612520



Internal ID6999421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22416141..22421462hg38UCSC Ensembl
Innerchr7:22416197..22421406hg38UCSC Ensembl
Outerchr7:22416085..22421518hg38UCSC Ensembl
chr7:22455760..22461081hg19UCSC Ensembl
Innerchr7:22455816..22461025hg19UCSC Ensembl
Outerchr7:22455704..22461137hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg385322
hg195322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12698573, essv12698574
SamplesHG01513, HG00689
Known GenesSTEAP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612520
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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