A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658183



Internal ID9577602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51533462..51535743hg38UCSC Ensembl
chr8:52446022..52448303hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg382282
hg192282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6541306, essv6096023, essv5672482, essv5775530, essv5531411, essv5694912, essv6239296, essv5882422, essv5716047, essv5745041, essv6289545, essv6190840, essv6439395, essv6392716, essv5742311, essv5916881, essv6555776, essv6321370
SamplesNA19012, NA20527, NA18523, NA19003, NA19449, HG00335, NA18912, NA19396, NA19189, NA19373, NA19657, HG00282, NA19332, NA19394, NA18602, NA19399, NA19079, NA19381
Known GenesPXDNL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658183
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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