A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589414



Internal ID6976742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244729391..244736973hg38UCSC Ensembl
Innerchr1:244729391..244736973hg38UCSC Ensembl
Outerchr1:244729336..244737018hg38UCSC Ensembl
chr1:244892693..244900275hg19UCSC Ensembl
Innerchr1:244892693..244900275hg19UCSC Ensembl
Outerchr1:244892638..244900320hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387583
hg197583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360091, essv10360090, essv10360092
SamplesNA19443, NA19086, NA19060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589414
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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