A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667575



Internal ID9933680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141928881..141928980hg38UCSC Ensembl
Outerchr5:141928724..141929133hg38UCSC Ensembl
Innerchr5:141308446..141308545hg19UCSC Ensembl
Outerchr5:141308289..141308698hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5572246, essv6388996, essv5937112, essv6104930, essv6217963, essv5866553, essv6335931, essv6155317, essv5711717, essv5939781, essv6158300, essv5803781, essv6400649, essv5482973, essv6578280, essv6088123, essv6194335, essv6398820, essv6047184, essv5938058, essv5454633
SamplesNA11829, NA12045, NA19819, NA07346, NA11918, NA18964, NA11994, NA19200, NA11993, NA18516, NA18910, NA18572, NA18856, NA18570, NA18953, NA18501, NA19116, NA18505, NA18511, NA12154, NA18562
Known GenesKIAA0141
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667575
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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