A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607162



Internal ID6994097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150640987..150644648hg38UCSC Ensembl
Innerchr5:150641000..150644636hg38UCSC Ensembl
Outerchr5:150640975..150644661hg38UCSC Ensembl
chr5:150020549..150024210hg19UCSC Ensembl
Innerchr5:150020562..150024198hg19UCSC Ensembl
Outerchr5:150020537..150024223hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383662
hg193662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12095960
SamplesHG02190
Known GenesSYNPO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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