A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13000613



Internal ID3655277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148375818..148379235hg38UCSC Ensembl
Innerchr7:148375818..148379235hg38UCSC Ensembl
Outerchr7:148375332..148379790hg38UCSC Ensembl
chr7:148072910..148076327hg19UCSC Ensembl
Innerchr7:148072910..148076327hg19UCSC Ensembl
Outerchr7:148072424..148076882hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383418
hg193418
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615412
Supporting Variants
SamplesHG03247
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13000613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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