A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587137



Internal ID6974564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108806052..108806931hg38UCSC Ensembl
Innerchr1:108806054..108806929hg38UCSC Ensembl
Outerchr1:108806050..108806933hg38UCSC Ensembl
chr1:109348674..109349553hg19UCSC Ensembl
Innerchr1:109348676..109349551hg19UCSC Ensembl
Outerchr1:109348672..109349555hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10053152, essv10053155, essv10053159, essv10053160, essv10053154, essv10053153, essv10053157, essv10053158, essv10053151, essv10053156
SamplesNA12843, NA12004, HG01140, HG01676, HG01242, HG02233, HG01200, HG01762, HG01776, HG01695
Known GenesSTXBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587137
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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