A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657158



Internal ID9923263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42704110..42707420hg38UCSC Ensembl
chr4:42706127..42709437hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg383311
hg193311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6238105, essv5659890, essv5646893, essv5706526, essv6189670, essv5610602, essv5461796, essv5971536, essv5679824, essv6514030, essv6323744, essv6077933, essv5525399, essv6038841, essv5409568, essv6211903, essv5464297, essv5405898, essv6121604, essv6423896, essv6520965, essv5643131, essv6338075, essv5969227, essv5808400, essv6239130, essv5668279, essv5421473, essv6456821, essv6385649
SamplesNA11829, NA20531, NA18486, NA12058, NA12399, NA20796, NA19382, NA20317, NA19197, NA19456, NA19445, HG00282, NA19403, NA12003, NA20536, HG00551, HG01094, NA18856, HG00276, HG00254, HG00119, NA19321, HG00366, NA19360, NA19438, NA19779, NA19093, NA19780, HG01191, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657158
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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