A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657343



Internal ID9576762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:106683738..106904111hg38UCSC Ensembl
chr5:106019439..106239812hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38220374
hg19220374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5523519, essv6186492, essv5594875, essv5543321, essv5547433, essv6156798, essv6231085, essv6378915, essv6245109, essv6493491, essv6332151, essv6131819, essv5733152, essv5917492, essv5811470, essv5971861, essv6154812, essv5934756, essv5533758, essv5506110, essv5439030, essv5482243, essv5486256, essv6211480, essv5701870, essv5613128, essv6364149, essv6272360, essv5865920, essv6137740, essv5753940, essv6250197, essv5719724, essv6450110, essv6118039, essv6397554
SamplesHG01389, HG00699, HG01461, HG01140, HG01350, HG01351, HG00702, NA20586, HG01365, HG01170, HG00534, HG00464, HG01353, HG01136, HG01171, NA19462, HG00653, HG00436, HG00320, HG00583, NA18637, HG00708, HG00692, HG01073, NA18634, NA18632, NA18559, NA18628, HG00418, NA19078, HG00707, HG01491, NA18631, HG01082, HG01125, HG00581
Known GenesLOC102467213
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657343
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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