A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669433



Internal ID9935538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152320409..152325309hg38UCSC Ensembl
chr7:152017494..152022394hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5966138, essv5834231, essv5428997, essv5468140, essv6305201, essv6114905, essv5441317, essv5577350, essv6310217, essv6370009
SamplesNA20512, HG00179, HG00736, HG00369, HG00270, NA20755, HG00285, HG00366, HG00111, HG00174
Known GenesKMT2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669433
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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