A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588024



Internal ID6975448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177977024..177982957hg38UCSC Ensembl
Innerchr1:177977024..177982957hg38UCSC Ensembl
Outerchr1:177976994..177982989hg38UCSC Ensembl
chr1:177946159..177952092hg19UCSC Ensembl
Innerchr1:177946159..177952092hg19UCSC Ensembl
Outerchr1:177946129..177952124hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385934
hg195934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e214
Supporting Variantsessv10193412, essv10193413
SamplesHG02819, NA19716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588024
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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