A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615393



Internal ID6655592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147332419..147337763hg38UCSC Ensembl
Innerchr7:147332419..147337763hg38UCSC Ensembl
Outerchr7:147332166..147337973hg38UCSC Ensembl
chr7:147029511..147034855hg19UCSC Ensembl
Innerchr7:147029511..147034855hg19UCSC Ensembl
Outerchr7:147029258..147035065hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385345
hg195345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998331, essv12998332, essv12998330, essv12998333
SamplesHG04158, HG02688, HG03018, HG03830
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615393
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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