A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12999507



Internal ID6009865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148150202..148154544hg38UCSC Ensembl
Innerchr7:148150252..148154494hg38UCSC Ensembl
Outerchr7:148150111..148154635hg38UCSC Ensembl
chr7:147847294..147851636hg19UCSC Ensembl
Innerchr7:147847344..147851586hg19UCSC Ensembl
Outerchr7:147847203..147851727hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384343
hg194343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615406
Supporting Variants
SamplesNA19404
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12999507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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