A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587595



Internal ID6975017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153884804..153885806hg38UCSC Ensembl
Innerchr1:153884849..153885762hg38UCSC Ensembl
Outerchr1:153884760..153885851hg38UCSC Ensembl
chr1:153857280..153858282hg19UCSC Ensembl
Innerchr1:153857325..153858238hg19UCSC Ensembl
Outerchr1:153857236..153858327hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151444, essv10151448, essv10151433, essv10151436, essv10151447, essv10151440, essv10151446, essv10151438, essv10151441, essv10151445, essv10151442, essv10151437, essv10151434, essv10151443, essv10151435, essv10151439
SamplesHG03559, HG03163, HG02419, HG02545, NA18934, NA19175, NA19043, HG01880, HG01323, HG02283, NA20276, HG02308, HG03117, NA19360, HG03557, HG01082
Known GenesGATAD2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587595
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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