A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613090



Internal ID6999988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48645473..48653073hg38UCSC Ensembl
Innerchr7:48645495..48653051hg38UCSC Ensembl
Outerchr7:48645451..48653095hg38UCSC Ensembl
chr7:48685069..48692669hg19UCSC Ensembl
Innerchr7:48685091..48692647hg19UCSC Ensembl
Outerchr7:48685047..48692691hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg387601
hg197601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12764269, essv12764270
SamplesNA21144, NA20902
Known GenesABCA13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613090
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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