A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588765



Internal ID6976181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213266823..213268235hg38UCSC Ensembl
Innerchr1:213266867..213268191hg38UCSC Ensembl
Outerchr1:213266779..213268279hg38UCSC Ensembl
chr1:213440166..213441578hg19UCSC Ensembl
Innerchr1:213440210..213441534hg19UCSC Ensembl
Outerchr1:213440122..213441622hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381413
hg191413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291212, essv10291211, essv10291210
SamplesHG01680, HG00280, HG03886
Known GenesRPS6KC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588765
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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