A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12252439



Internal ID2254255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30889700..30987504hg38UCSC Ensembl
chr6:30857477..30955281hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3897805
hg1997805
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608518
Supporting Variants
SamplesHG01990
Known GenesDDR1, DPCR1, GTF2H4, MIR4640, MUC21, SFTA2, VARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12252439
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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