A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590589



Internal ID6630875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45530898..45532889hg38UCSC Ensembl
Innerchr2:45530898..45532889hg38UCSC Ensembl
Outerchr2:45530603..45533154hg38UCSC Ensembl
chr2:45758037..45760028hg19UCSC Ensembl
Innerchr2:45758037..45760028hg19UCSC Ensembl
Outerchr2:45757742..45760293hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381992
hg191992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10486645, essv10486655, essv10486653, essv10486660, essv10486644, essv10486654, essv10486662, essv10486659, essv10486646, essv10486647, essv10486664, essv10486661, essv10486663, essv10486648, essv10486658, essv10486650, essv10486656, essv10486649, essv10486652, essv10486657, essv10486665, essv10486651
SamplesNA20762, NA20882, HG00242, NA19704, NA11920, NA20507, NA12812, HG03770, NA19782, NA12748, HG00176, HG02470, HG01607, NA12234, HG00321, HG03790, HG01894, NA20530, NA19324, NA12763, HG00186, NA20758
Known GenesSRBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590589
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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