A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675386



Internal ID9941491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14540672..14541688hg38UCSC Ensembl
chr5:14540781..14541797hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6021735, essv5828286, essv5910704, essv6305138, essv6101230, essv6509549, essv6304207, essv5630643, essv5610392, essv5502651, essv5870731, essv6011363, essv5701828, essv5669050, essv6227657, essv5942036, essv5976495, essv6530973, essv5408833, essv5513957, essv5841874, essv5931213, essv5952392, essv6032304, essv6390268, essv6021268, essv6520412, essv6483269, essv5636504, essv6043043, essv5815061, essv5468059, essv5936445, essv5821084
SamplesNA19466, NA19350, NA18519, NA19319, NA19904, HG01069, NA18874, NA19137, NA19372, NA18908, NA19921, NA19210, NA18934, NA19391, NA19236, NA18912, NA20282, NA19452, NA19225, HG01107, NA19436, NA19390, NA18909, NA19108, NA19147, NA19473, HG00638, NA19328, NA18501, NA20289, NA19116, NA18488, HG01082, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675386
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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