A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592864



Internal ID6980191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149404134..149502574hg38UCSC Ensembl
Innerchr2:149404284..149502424hg38UCSC Ensembl
Outerchr2:149403984..149502724hg38UCSC Ensembl
chr2:150260648..150359088hg19UCSC Ensembl
Innerchr2:150260798..150358938hg19UCSC Ensembl
Outerchr2:150260498..150359238hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3898441
hg1998441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10709045
SamplesNA19750
Known GenesLYPD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592864
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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