A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671304



Internal ID9937409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23100260..23104693hg38UCSC Ensembl
chr7:23139879..23144312hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg384434
hg194434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6101580, essv6048860, essv6440979, essv5454361, essv6315983, essv5684603, essv5824457, essv5502896, essv6588575, essv6094060, essv6122879, essv5746051, essv5724900, essv6459851, essv6155636
SamplesNA19394, NA19701, HG01462, NA19819, NA19443, NA18510, NA18868, NA20340, NA19471, NA19469, NA19625, NA19108, NA19147, NA19438, NA19316
Known GenesKLHL7-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671304
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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