A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614657



Internal ID7001550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114012433..114019325hg38UCSC Ensembl
Innerchr7:114012933..114018825hg38UCSC Ensembl
Outerchr7:114011433..114020325hg38UCSC Ensembl
chr7:113652488..113659380hg19UCSC Ensembl
Innerchr7:113652988..113658880hg19UCSC Ensembl
Outerchr7:113651488..113660380hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386893
hg196893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12932085, essv12932091, essv12932070, essv12932068, essv12932077, essv12932092, essv12932095, essv12932086, essv12932082, essv12932072, essv12932067, essv12932098, essv12932090, essv12932099, essv12932076, essv12932100, essv12932104, essv12932074, essv12932101, essv12932097, essv12932087, essv12932102, essv12932083, essv12932078, essv12932094, essv12932088, essv12932084, essv12932096, essv12932071, essv12932075, essv12932103, essv12932073, essv12932079, essv12932089, essv12932080, essv12932065, essv12932069, essv12932093, essv12932081, essv12932066
SamplesHG03096, HG03517, HG02476, NA19355, HG03515, HG01694, NA19446, NA19307, NA20769, NA19131, NA19782, HG02281, HG03268, HG01072, NA18908, HG02442, HG01139, NA19210, HG03088, NA19175, HG02497, HG03124, HG03446, HG02309, HG02332, HG03028, HG02807, HG01894, HG02923, NA19144, NA19323, HG03442, HG03313, HG03025, HG03279, HG03538, HG03470, NA18505, NA19431, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614657
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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