A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614163



Internal ID7001058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93543928..93546641hg38UCSC Ensembl
Innerchr7:93543928..93546641hg38UCSC Ensembl
Outerchr7:93543758..93546831hg38UCSC Ensembl
chr7:93173240..93175953hg19UCSC Ensembl
Innerchr7:93173240..93175953hg19UCSC Ensembl
Outerchr7:93173070..93176143hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382714
hg192714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12891548, essv12891549, essv12891550
SamplesHG03099, NA18923, NA19130
Known GenesCALCR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614163
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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