A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670269



Internal ID9589688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30498684..31067110hg38UCSC Ensembl
Outerchr6:30498650..31067145hg38UCSC Ensembl
Innerchr6:30466461..31034887hg19UCSC Ensembl
Outerchr6:30466427..31034922hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38568496
hg19568496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6575566
SamplesHG00656
Known GenesABCF1, ATAT1, C6orf136, DDR1, DHX16, DPCR1, FLOT1, GNL1, GTF2H4, HCG22, IER3, MDC1, MIR4640, MIR877, MRPS18B, MUC21, MUC22, NRM, PPP1R10, PPP1R18, PRR3, SFTA2, TUBB, VARS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670269
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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