A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614749



Internal ID7001642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118930347..118947595hg38UCSC Ensembl
Innerchr7:118930347..118947595hg38UCSC Ensembl
Outerchr7:118929847..118948095hg38UCSC Ensembl
chr7:118570401..118587649hg19UCSC Ensembl
Innerchr7:118570401..118587649hg19UCSC Ensembl
Outerchr7:118569901..118588149hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3817249
hg1917249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12942469
SamplesNA21116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614749
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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