A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615411



Internal ID6655610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148359949..148362061hg38UCSC Ensembl
Innerchr7:148359959..148362052hg38UCSC Ensembl
Outerchr7:148359940..148362071hg38UCSC Ensembl
chr7:148057041..148059153hg19UCSC Ensembl
Innerchr7:148057051..148059144hg19UCSC Ensembl
Outerchr7:148057032..148059163hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382113
hg192113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12999518, essv12999519
SamplesHG04146, NA20870
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615411
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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