A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629053



Internal ID6669193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31675069..31677136hg38UCSC Ensembl
Innerchr12:31675069..31677136hg38UCSC Ensembl
Outerchr12:31674750..31677431hg38UCSC Ensembl
chr12:31828003..31830070hg19UCSC Ensembl
Innerchr12:31828003..31830070hg19UCSC Ensembl
Outerchr12:31827684..31830365hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382068
hg192068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14434186, essv14434135, essv14434171, essv14434148, essv14434146, essv14434165, essv14434167, essv14434172, essv14434139, essv14434160, essv14434136, essv14434188, essv14434174, essv14434154, essv14434156, essv14434138, essv14434134, essv14434129, essv14434150, essv14434178, essv14434184, essv14434130, essv14434169, essv14434175, essv14434155, essv14434143, essv14434170, essv14434181, essv14434162, essv14434140, essv14434137, essv14434173, essv14434147, essv14434153, essv14434159, essv14434189, essv14434145, essv14434177, essv14434131, essv14434142, essv14434149, essv14434141, essv14434166, essv14434144, essv14434179, essv14434128, essv14434133, essv14434187, essv14434164, essv14434176, essv14434183, essv14434132, essv14434180, essv14434185, essv14434151, essv14434161, essv14434168, essv14434152, essv14434163, essv14434182, essv14434158, essv14434127, essv14434157
SamplesNA19137, HG01775, HG02108, HG02621, NA19114, HG03437, HG02799, HG02946, HG02944, HG02977, HG01958, HG02323, HG01950, HG02805, NA18868, NA19143, HG02895, HG02455, HG02588, NA18912, HG03127, HG02554, NA19900, HG02557, HG02763, NA19324, HG02888, HG02814, HG03473, NA18486, HG02337, HG02804, HG02429, HG02611, NA18504, NA19704, HG03366, HG03073, HG02852, NA19707, HG03577, HG02614, HG02582, HG03175, HG03352, HG01063, HG03045, HG03078, HG02144, NA18879, HG02465, HG02702, HG01886, NA18924, HG02798, HG02574, HG03517, NA19468, HG01890, HG02860, NA18881, HG03095, HG03082
Known GenesAMN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629053
Frequency
Sample Size2504
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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