A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587506



Internal ID6627808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150570989..150572221hg38UCSC Ensembl
Innerchr1:150571013..150572198hg38UCSC Ensembl
Outerchr1:150570966..150572245hg38UCSC Ensembl
chr1:150543465..150544697hg19UCSC Ensembl
Innerchr1:150543489..150544674hg19UCSC Ensembl
Outerchr1:150543442..150544721hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145165, essv10145163, essv10145164
SamplesNA19108, HG03583, HG02574
Known GenesADAMTSL4-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587506
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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