A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588008



Internal ID6975432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176724968..176862060hg38UCSC Ensembl
Innerchr1:176724968..176862060hg38UCSC Ensembl
Outerchr1:176724468..176862560hg38UCSC Ensembl
chr1:176694104..176831196hg19UCSC Ensembl
Innerchr1:176694104..176831196hg19UCSC Ensembl
Outerchr1:176693604..176831696hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38137093
hg19137093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10193380
SamplesHG03567
Known GenesASTN1, PAPPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588008
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer