A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12750042



Internal ID4974205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39780497..39785605hg38UCSC Ensembl
Innerchr7:39780516..39785587hg38UCSC Ensembl
Outerchr7:39780479..39785624hg38UCSC Ensembl
chr7:39820096..39825204hg19UCSC Ensembl
Innerchr7:39820115..39825186hg19UCSC Ensembl
Outerchr7:39820078..39825223hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385109
hg195109
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612916
Supporting Variants
SamplesNA12878
Known GenesLINC00265
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12750042
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