A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741248



Internal ID14742058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29981607..31490616hg38UCSC Ensembl
Innerchr6:29981657..31490566hg38UCSC Ensembl
Outerchr6:29981557..31490666hg38UCSC Ensembl
chr6:29949384..31458393hg19UCSC Ensembl
Innerchr6:29949434..31458343hg19UCSC Ensembl
Outerchr6:29949334..31458443hg19UCSC Ensembl
chr6:30057363..31566372hg18UCSC Ensembl
Innerchr6:30057413..31566322hg18UCSC Ensembl
Outerchr6:30057313..31566422hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381509010
hg191509010
hg181509010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3411275
Supporting Variants
SamplesNA19240
Known GenesABCF1, ATAT1, C6orf136, C6orf15, CCHCR1, CDSN, DDR1, DHX16, DPCR1, FLOT1, GNL1, GTF2H4, HCG17, HCG18, HCG22, HCG26, HCG27, HCG8, HCP5, HLA-B, HLA-C, HLA-E, HLA-J, HLA-L, IER3, MDC1, MICA, MIR4640, MIR6891, MIR877, MRPS18B, MUC21, MUC22, NRM, POU5F1, PPP1R10, PPP1R11, PPP1R18, PRR3, PSORS1C1, PSORS1C2, PSORS1C3, RNF39, RPP21, SFTA2, TCF19, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, VARS2, ZNRD1, ZNRD1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741248
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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