A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607153



Internal ID6994088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149881855..149882895hg38UCSC Ensembl
Innerchr5:149881863..149882888hg38UCSC Ensembl
Outerchr5:149881848..149882903hg38UCSC Ensembl
chr5:149261418..149262458hg19UCSC Ensembl
Innerchr5:149261426..149262451hg19UCSC Ensembl
Outerchr5:149261411..149262466hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12094732, essv12094722, essv12094735, essv12094723, essv12094728, essv12094730, essv12094727, essv12094737, essv12094724, essv12094731, essv12094734, essv12094729, essv12094739, essv12094726, essv12094738, essv12094725, essv12094733, essv12094736
SamplesHG02496, NA19399, HG02337, NA18870, HG03082, HG03099, HG02143, HG02461, HG01440, NA20126, HG03159, HG03382, NA18523, HG02594, HG02568, HG03060, HG02051, NA18505
Known GenesPDE6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607153
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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