A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587180



Internal ID6627487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111285140..111293482hg38UCSC Ensembl
Innerchr1:111285142..111293481hg38UCSC Ensembl
Outerchr1:111285139..111293484hg38UCSC Ensembl
chr1:111827762..111836104hg19UCSC Ensembl
Innerchr1:111827764..111836103hg19UCSC Ensembl
Outerchr1:111827761..111836106hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388343
hg198343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10065864, essv10065866, essv10065873, essv10065878, essv10065865, essv10065869, essv10065871, essv10065877, essv10065870, essv10065876, essv10065875, essv10065874, essv10065872, essv10065867, essv10065868
SamplesHG04156, NA18952, HG02060, HG00457, NA18550, HG02139, HG04140, HG02155, HG00759, NA21116, HG02019, NA19074, NA18597, HG01842, NA18574
Known GenesCHIA, CHIAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587180
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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