A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615403



Internal ID6655602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147747825..147748786hg38UCSC Ensembl
Innerchr7:147747839..147748772hg38UCSC Ensembl
Outerchr7:147747811..147748800hg38UCSC Ensembl
chr7:147444917..147445878hg19UCSC Ensembl
Innerchr7:147444931..147445864hg19UCSC Ensembl
Outerchr7:147444903..147445892hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38962
hg19962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998504
SamplesHG02973
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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