A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932359



Internal ID2902550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54146201..54149534hg38UCSC Ensembl
Innerchr1:54146211..54149525hg38UCSC Ensembl
Outerchr1:54146192..54149544hg38UCSC Ensembl
chr1:54611874..54615207hg19UCSC Ensembl
Innerchr1:54611884..54615198hg19UCSC Ensembl
Outerchr1:54611865..54615217hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383334
hg193334
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586084
Supporting Variants
SamplesHG02573
Known GenesCDCP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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