A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588054



Internal ID6628354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179498234..179500784hg38UCSC Ensembl
Innerchr1:179498284..179500734hg38UCSC Ensembl
Outerchr1:179498174..179500844hg38UCSC Ensembl
chr1:179467369..179469919hg19UCSC Ensembl
Innerchr1:179467419..179469869hg19UCSC Ensembl
Outerchr1:179467309..179469979hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382551
hg192551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10197597, essv10197596, essv10197599, essv10197598
SamplesHG02778, HG01392, HG01509, HG03730
Known GenesAXDND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588054
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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