A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9915259



Internal ID6540552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38880108..38891226hg38UCSC Ensembl
Innerchr1:38880608..38890726hg38UCSC Ensembl
Outerchr1:38879108..38892226hg38UCSC Ensembl
chr1:39345780..39356898hg19UCSC Ensembl
Innerchr1:39346280..39356398hg19UCSC Ensembl
Outerchr1:39344780..39357898hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3811119
hg1911119
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585774
Supporting Variants
SamplesNA20362
Known GenesGJA9, GJA9-MYCBP, RHBDL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9915259
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