A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657305



Internal ID9923410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156717803..156718934hg38UCSC Ensembl
chr5:156144814..156145945hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6577117, essv5434384, essv6273222, essv5925991, essv6068178, essv5838662, essv5971213, essv5624927
SamplesNA19457, NA19384, NA19455, NA19338, NA19435, NA19376, NA19468, NA19431
Known GenesSGCD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657305
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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