A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587966



Internal ID6975389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174642564..174650243hg38UCSC Ensembl
Innerchr1:174642564..174650243hg38UCSC Ensembl
Outerchr1:174642064..174650743hg38UCSC Ensembl
chr1:174611702..174619381hg19UCSC Ensembl
Innerchr1:174611702..174619381hg19UCSC Ensembl
Outerchr1:174611202..174619881hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg387680
hg197680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10189272, essv10189276, essv10189280, essv10189273, essv10189274, essv10189271, essv10189278, essv10189279, essv10189277, essv10189269, essv10189270, essv10189275, essv10189282, essv10189281
SamplesHG03099, NA19764, NA18923, HG03370, HG03267, HG03114, NA19043, NA19031, NA19223, HG03279, NA19900, NA18984, NA19463, HG03198
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587966
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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