A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612662



Internal ID6999562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27657053..27658176hg38UCSC Ensembl
Innerchr7:27657058..27658172hg38UCSC Ensembl
Outerchr7:27657049..27658181hg38UCSC Ensembl
chr7:27696672..27697795hg19UCSC Ensembl
Innerchr7:27696677..27697791hg19UCSC Ensembl
Outerchr7:27696668..27697800hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381124
hg191124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12713912, essv12713917, essv12713916, essv12713914, essv12713915, essv12713913
SamplesNA19026, HG02470, NA19467, NA19323, HG03565, NA18873
Known GenesHIBADH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612662
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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