A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542604



Internal ID18396994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314623..147315503hg38UCSC Ensembl
Outerchr7:147314382..147315676hg38UCSC Ensembl
Innerchr7:147011715..147012595hg19UCSC Ensembl
Outerchr7:147011474..147012768hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381295
hg191295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741351
Samples
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542604
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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