A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12845477



Internal ID5538996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74665366..74674602hg38UCSC Ensembl
Innerchr7:74665366..74674602hg38UCSC Ensembl
Outerchr7:74664866..74675102hg38UCSC Ensembl
chr7:74079698..74088926hg19UCSC Ensembl
Innerchr7:74079698..74088926hg19UCSC Ensembl
Outerchr7:74079198..74089426hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389237
hg199229
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613716
Supporting Variants
SamplesNA19001
Known GenesGTF2I
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12845477
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