A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672345



Internal ID9938450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103452475..103456141hg38UCSC Ensembl
chr7:103092922..103096588hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383667
hg193667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5937846, essv5417141, essv5405787, essv6555409, essv6421087, essv5399149, essv5690085, essv6116965, essv5849181, essv5734649, essv5584809, essv5888248, essv5656262
SamplesNA19700, NA19443, NA18510, NA19707, NA19236, NA19982, NA18856, NA20282, NA19469, NA19395, NA19835, NA19470, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672345
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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