A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615109



Internal ID7001998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135013602..135014364hg38UCSC Ensembl
Innerchr7:135013611..135014355hg38UCSC Ensembl
Outerchr7:135013593..135014373hg38UCSC Ensembl
chr7:134698353..134699115hg19UCSC Ensembl
Innerchr7:134698362..134699106hg19UCSC Ensembl
Outerchr7:134698344..134699124hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12975634, essv12975624, essv12975621, essv12975623, essv12975629, essv12975630, essv12975627, essv12975626, essv12975631, essv12975625, essv12975632, essv12975635, essv12975628, essv12975622, essv12975633
SamplesHG03514, NA19701, NA19466, NA19204, HG03130, HG03521, HG03298, HG03297, NA19200, NA19175, HG02511, NA18858, NA19475, HG02971, HG03303
Known GenesAGBL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615109
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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