A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615007



Internal ID6655208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129904915..129906028hg38UCSC Ensembl
Innerchr7:129904926..129906018hg38UCSC Ensembl
Outerchr7:129904905..129906039hg38UCSC Ensembl
chr7:129544755..129545868hg19UCSC Ensembl
Innerchr7:129544766..129545858hg19UCSC Ensembl
Outerchr7:129544745..129545879hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12971685, essv12971689, essv12971688, essv12971682, essv12971680, essv12971687, essv12971691, essv12971684, essv12971681, essv12971683, essv12971690, essv12971692, essv12971686
SamplesHG02601, HG04014, NA21133, HG02685, HG03779, HG04164, NA21122, HG03944, HG03815, NA20846, HG04015, HG03695, HG04182
Known GenesUBE2H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615007
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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