A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613730



Internal ID7000626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75728665..75736832hg38UCSC Ensembl
Innerchr7:75728707..75736790hg38UCSC Ensembl
Outerchr7:75728623..75736874hg38UCSC Ensembl
chr7:75357983..75366150hg19UCSC Ensembl
Innerchr7:75358025..75366108hg19UCSC Ensembl
Outerchr7:75357941..75366192hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg388168
hg198168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848100, essv12848099
SamplesNA20813, NA12413
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613730
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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