A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606891



Internal ID6647133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136985442..136987804hg38UCSC Ensembl
Innerchr5:136985450..136987797hg38UCSC Ensembl
Outerchr5:136985435..136987812hg38UCSC Ensembl
chr5:136321131..136323493hg19UCSC Ensembl
Innerchr5:136321139..136323486hg19UCSC Ensembl
Outerchr5:136321124..136323501hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382363
hg192363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12069324, essv12069321, essv12069315, essv12069317, essv12069319, essv12069318, essv12069316, essv12069312, essv12069314, essv12069323, essv12069320, essv12069322, essv12069311, essv12069313
SamplesNA19909, HG03517, HG03241, HG02891, HG03521, HG03139, HG01461, HG03133, HG03189, HG02946, HG03123, HG03388, NA19160, HG02938
Known GenesSPOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606891
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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