A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612083



Internal ID6998985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7412169..7413542hg38UCSC Ensembl
Innerchr7:7412169..7413542hg38UCSC Ensembl
Outerchr7:7412021..7413790hg38UCSC Ensembl
chr7:7451800..7453173hg19UCSC Ensembl
Innerchr7:7451800..7453173hg19UCSC Ensembl
Outerchr7:7451652..7453421hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12674660, essv12674647, essv12674643, essv12674645, essv12674651, essv12674652, essv12674653, essv12674646, essv12674659, essv12674658, essv12674657, essv12674644, essv12674654, essv12674642, essv12674650, essv12674649, essv12674656, essv12674655, essv12674648
SamplesHG00650, NA19141, HG03163, NA18561, HG02836, HG02870, HG03172, HG03385, NA18489, HG03485, HG02756, HG02620, HG01880, HG00531, NA19095, HG01596, HG00445, HG02721, HG01872
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612083
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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