A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671527



Internal ID1605741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4861563..4973875hg38UCSC Ensembl
chr7:4901194..5013506hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38112313
hg19112313
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611951
Supporting Variants
SamplesHG01491
Known GenesMMD2, PAPOLB, RADIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671527
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