A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542680



Internal ID18397070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152385335..152385641hg38UCSC Ensembl
Outerchr7:152385279..152385653hg38UCSC Ensembl
Innerchr7:152082420..152082726hg19UCSC Ensembl
Outerchr7:152082364..152082738hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741427
Samples
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542680
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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