A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848021



Internal ID6168702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75565851..75567771hg38UCSC Ensembl
Innerchr7:75565851..75567771hg38UCSC Ensembl
Outerchr7:75565546..75568068hg38UCSC Ensembl
chr7:75195155..75197075hg19UCSC Ensembl
Innerchr7:75195155..75197075hg19UCSC Ensembl
Outerchr7:75194850..75197372hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613723
Supporting Variants
SamplesNA19707
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848021
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