A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10542408



Internal ID544224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74422338..74424120hg38UCSC Ensembl
Innerchr2:74422359..74424099hg38UCSC Ensembl
Outerchr2:74422317..74424141hg38UCSC Ensembl
chr2:74649465..74651247hg19UCSC Ensembl
Innerchr2:74649486..74651226hg19UCSC Ensembl
Outerchr2:74649444..74651268hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381783
hg191783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591281
Supporting Variants
SamplesHG02086
Known GenesWDR54
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10542408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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