A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12937008



Internal ID2936925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116905500..117056329hg38UCSC Ensembl
Innerchr7:116905650..117056179hg38UCSC Ensembl
Outerchr7:116905350..117056479hg38UCSC Ensembl
chr7:116545554..116696383hg19UCSC Ensembl
Innerchr7:116545704..116696233hg19UCSC Ensembl
Outerchr7:116545404..116696533hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38150830
hg19150830
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614702
Supporting Variants
SamplesHG03805
Known GenesCAPZA2, MIR6132, ST7, ST7-AS1, ST7-OT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12937008
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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