A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615401



Internal ID6655600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147719253..147720108hg38UCSC Ensembl
Innerchr7:147719261..147720100hg38UCSC Ensembl
Outerchr7:147719245..147720116hg38UCSC Ensembl
chr7:147416345..147417200hg19UCSC Ensembl
Innerchr7:147416353..147417192hg19UCSC Ensembl
Outerchr7:147416337..147417208hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998496, essv12998497
SamplesNA21133, NA18997
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615401
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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