A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615407



Internal ID6655606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148151147..148153151hg38UCSC Ensembl
Innerchr7:148151197..148153101hg38UCSC Ensembl
Outerchr7:148151097..148153201hg38UCSC Ensembl
chr7:147848239..147850243hg19UCSC Ensembl
Innerchr7:147848289..147850193hg19UCSC Ensembl
Outerchr7:147848189..147850293hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382005
hg192005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12999509, essv12999510
SamplesHG04002, HG03919
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615407
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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