A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3636296



Internal ID6676405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43632277..43729059hg38UCSC Ensembl
Innerchr15:43632777..43728559hg38UCSC Ensembl
Outerchr15:43631277..43730059hg38UCSC Ensembl
chr15:43924475..44021257hg19UCSC Ensembl
Innerchr15:43924975..44020757hg19UCSC Ensembl
Outerchr15:43923475..44022257hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3896783
hg1996783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15231498, essv15231496, essv15231499, essv15231488, essv15231495, essv15231492, essv15231494, essv15231493, essv15231490, essv15231491, essv15231489, essv15231497
SamplesNA19067, HG03754, HG03750, HG00530, HG04195, HG02775, HG03740, NA19436, HG02455, HG01954, HG00478, HG03698
Known GenesCATSPER2, CKMT1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3636296
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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