A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612999



Internal ID6999898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43621517..43623034hg38UCSC Ensembl
Innerchr7:43621526..43623026hg38UCSC Ensembl
Outerchr7:43621509..43623043hg38UCSC Ensembl
chr7:43661116..43662633hg19UCSC Ensembl
Innerchr7:43661125..43662625hg19UCSC Ensembl
Outerchr7:43661108..43662642hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756524, essv12756522, essv12756519, essv12756520, essv12756523, essv12756521
SamplesHG03836, HG04214, HG03713, HG04219, HG03863, NA20852
Known GenesSTK17A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612999
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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